ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA132748
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000007550
RCV000036517
RCV001095216
RCV001810835
ClinVar Variation:
7130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Val470Met
CA132747
NM_000492.4:c.1408G>A